Incidental Mutation 'R2239:Ccdc47'
ID 240556
Institutional Source Beutler Lab
Gene Symbol Ccdc47
Ensembl Gene ENSMUSG00000078622
Gene Name coiled-coil domain containing 47
Synonyms asp4, calumin, 2610204L23Rik
MMRRC Submission 040239-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2239 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 106090086-106107349 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 106092960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 100 (N100K)
Ref Sequence ENSEMBL: ENSMUSP00000102478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002043] [ENSMUST00000106865] [ENSMUST00000137915]
AlphaFold Q9D024
Predicted Effect possibly damaging
Transcript: ENSMUST00000002043
AA Change: N416K

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000002043
Gene: ENSMUSG00000078622
AA Change: N416K

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 23 38 N/A INTRINSIC
Pfam:DUF1682 134 467 2.1e-98 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106865
AA Change: N100K

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102478
Gene: ENSMUSG00000078622
AA Change: N100K

DomainStartEndE-ValueType
Pfam:DUF1682 1 158 9.4e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122989
Predicted Effect unknown
Transcript: ENSMUST00000125383
AA Change: N162K
SMART Domains Protein: ENSMUSP00000122736
Gene: ENSMUSG00000078622
AA Change: N162K

DomainStartEndE-ValueType
Pfam:DUF1682 1 212 1.3e-53 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000137915
AA Change: N95K

PolyPhen 2 Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000117127
Gene: ENSMUSG00000078622
AA Change: N95K

DomainStartEndE-ValueType
Pfam:DUF1682 13 138 3.1e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153982
Meta Mutation Damage Score 0.0656 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 94% (68/72)
MGI Phenotype PHENOTYPE: More than half of homozygous null mice die at early embryonic stages while the rest die shortly after birth. Mouse embryonic fibroblasts display insufficient Ca2+ contents in intracellular stores, impaired store-operated Ca2+ entry, and enhanced endoplasmic reticulum stress-induced apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T C 8: 25,136,303 (GRCm39) E406G probably benign Het
Ago3 G A 4: 126,262,315 (GRCm39) R412C probably damaging Het
Arhgap36 G T X: 48,582,282 (GRCm39) V60L possibly damaging Het
Arl10 G T 13: 54,722,962 (GRCm39) V19L probably benign Het
Aspm T A 1: 139,384,584 (GRCm39) I127K possibly damaging Het
Atp8b3 A G 10: 80,366,822 (GRCm39) C259R probably damaging Het
Camk2g A G 14: 20,789,455 (GRCm39) I205T probably damaging Het
Cd200r4 T A 16: 44,641,260 (GRCm39) M1K probably null Het
Cdc37 G A 9: 21,053,829 (GRCm39) Q176* probably null Het
Cdh5 C A 8: 104,852,304 (GRCm39) H140N possibly damaging Het
Cep128 T C 12: 91,314,341 (GRCm39) T146A probably benign Het
Cnnm4 T A 1: 36,544,759 (GRCm39) S673T probably benign Het
Cnot1 T C 8: 96,496,149 (GRCm39) I342V probably benign Het
Cog8 C A 8: 107,782,993 (GRCm39) G99W probably damaging Het
Dars2 T C 1: 160,890,852 (GRCm39) T120A possibly damaging Het
Dnah7b C A 1: 46,240,344 (GRCm39) probably benign Het
Emilin2 T A 17: 71,617,219 (GRCm39) Q64L probably benign Het
Eomes A G 9: 118,311,359 (GRCm39) D394G probably damaging Het
Epn1 A G 7: 5,100,601 (GRCm39) N518S probably damaging Het
Exoc1 T C 5: 76,707,557 (GRCm39) probably benign Het
Fam186a C T 15: 99,852,745 (GRCm39) V158M unknown Het
Fryl A G 5: 73,265,890 (GRCm39) L477P probably damaging Het
Gbf1 T C 19: 46,152,057 (GRCm39) I30T probably benign Het
Hsd17b1 A T 11: 100,969,289 (GRCm39) I8F probably damaging Het
Htatsf1 G T X: 56,111,864 (GRCm39) D642Y unknown Het
Ift88 A G 14: 57,692,961 (GRCm39) I387V probably damaging Het
Kcnh5 T A 12: 75,054,493 (GRCm39) M484L probably benign Het
Kdm1b T A 13: 47,227,231 (GRCm39) F574L probably damaging Het
Kdm6a T C X: 18,065,476 (GRCm39) F104S probably damaging Het
Kntc1 T C 5: 123,941,733 (GRCm39) V1809A possibly damaging Het
Lgr4 T C 2: 109,842,738 (GRCm39) Y908H probably damaging Het
Ltbp3 C A 19: 5,801,551 (GRCm39) C698* probably null Het
Map3k1 A C 13: 111,885,478 (GRCm39) S1480A probably benign Het
Map7 A T 10: 20,154,028 (GRCm39) N715Y unknown Het
Morn4 A G 19: 42,066,471 (GRCm39) Y39H possibly damaging Het
Myh14 A T 7: 44,314,607 (GRCm39) D105E probably damaging Het
Nfasc T C 1: 132,510,760 (GRCm39) probably benign Het
Nfe2l2 G A 2: 75,506,898 (GRCm39) P401S probably benign Het
Nt5c1b C A 12: 10,425,558 (GRCm39) T309K probably damaging Het
Or10v5 T C 19: 11,805,814 (GRCm39) D192G probably damaging Het
Or2aa1 A G 11: 59,480,097 (GRCm39) S273P possibly damaging Het
Or5ac23 T A 16: 59,149,738 (GRCm39) I45F probably damaging Het
Or5b109 T C 19: 13,212,085 (GRCm39) V157A probably benign Het
Or5l13 T C 2: 87,779,741 (GRCm39) T279A probably damaging Het
P4hb A G 11: 120,454,108 (GRCm39) Y329H probably damaging Het
Papolg A G 11: 23,826,378 (GRCm39) Y259H probably damaging Het
Pcgf5 A T 19: 36,414,754 (GRCm39) N105I probably damaging Het
Pde4a G A 9: 21,122,564 (GRCm39) C820Y probably damaging Het
Phka2 A G X: 159,324,408 (GRCm39) E254G probably damaging Het
Phrf1 A G 7: 140,817,605 (GRCm39) E138G probably damaging Het
Rgs3 A T 4: 62,544,124 (GRCm39) T299S probably benign Het
Skint5 G A 4: 113,403,733 (GRCm39) T1163I unknown Het
Slc16a8 T C 15: 79,137,147 (GRCm39) M88V probably damaging Het
Slc35f4 A G 14: 49,543,660 (GRCm39) probably null Het
Smr2l T G 5: 88,430,413 (GRCm39) M103R probably benign Het
Spata4 A C 8: 55,055,664 (GRCm39) K185T probably benign Het
Spin2c A G X: 152,616,672 (GRCm39) I162V probably damaging Het
Stac G A 9: 111,519,190 (GRCm39) probably benign Het
Tet1 T C 10: 62,715,513 (GRCm39) D94G probably benign Het
Tnfsf11 A T 14: 78,537,421 (GRCm39) S81T possibly damaging Het
Topaz1 C T 9: 122,600,212 (GRCm39) T984I probably benign Het
Trmt5 A G 12: 73,331,888 (GRCm39) I4T probably benign Het
Ttc7b A G 12: 100,321,260 (GRCm39) probably null Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ush2a C A 1: 188,308,411 (GRCm39) T2020K probably benign Het
Zan G A 5: 137,456,099 (GRCm39) Q1354* probably null Het
Zpld2 A C 4: 133,929,516 (GRCm39) M263R unknown Het
Other mutations in Ccdc47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Ccdc47 APN 11 106,094,358 (GRCm39) splice site probably null
IGL01890:Ccdc47 APN 11 106,096,277 (GRCm39) missense probably damaging 1.00
IGL02026:Ccdc47 APN 11 106,095,853 (GRCm39) missense probably damaging 0.96
IGL03343:Ccdc47 APN 11 106,095,788 (GRCm39) missense probably damaging 0.99
PIT4677001:Ccdc47 UTSW 11 106,099,034 (GRCm39) missense probably damaging 1.00
R1508:Ccdc47 UTSW 11 106,093,242 (GRCm39) missense probably damaging 1.00
R3103:Ccdc47 UTSW 11 106,093,667 (GRCm39) missense probably benign 0.00
R3935:Ccdc47 UTSW 11 106,092,823 (GRCm39) unclassified probably benign
R4783:Ccdc47 UTSW 11 106,094,430 (GRCm39) missense probably benign 0.03
R5150:Ccdc47 UTSW 11 106,096,265 (GRCm39) missense possibly damaging 0.92
R5331:Ccdc47 UTSW 11 106,101,176 (GRCm39) missense probably benign 0.17
R5362:Ccdc47 UTSW 11 106,099,039 (GRCm39) splice site probably null
R5417:Ccdc47 UTSW 11 106,101,176 (GRCm39) missense probably benign 0.17
R5420:Ccdc47 UTSW 11 106,101,176 (GRCm39) missense probably benign 0.17
R5473:Ccdc47 UTSW 11 106,095,855 (GRCm39) missense probably damaging 0.98
R6297:Ccdc47 UTSW 11 106,094,427 (GRCm39) missense probably damaging 0.99
R6449:Ccdc47 UTSW 11 106,095,811 (GRCm39) missense probably damaging 1.00
R6981:Ccdc47 UTSW 11 106,093,563 (GRCm39) missense probably benign 0.04
R7136:Ccdc47 UTSW 11 106,095,830 (GRCm39) missense probably benign 0.01
R7170:Ccdc47 UTSW 11 106,093,304 (GRCm39) missense probably benign 0.01
R7340:Ccdc47 UTSW 11 106,091,799 (GRCm39) missense possibly damaging 0.68
R7799:Ccdc47 UTSW 11 106,101,143 (GRCm39) missense possibly damaging 0.84
R8335:Ccdc47 UTSW 11 106,099,085 (GRCm39) missense probably damaging 1.00
R8335:Ccdc47 UTSW 11 106,099,084 (GRCm39) missense possibly damaging 0.85
R8487:Ccdc47 UTSW 11 106,092,971 (GRCm39) missense possibly damaging 0.61
R8752:Ccdc47 UTSW 11 106,095,818 (GRCm39) missense probably damaging 0.99
R9157:Ccdc47 UTSW 11 106,093,208 (GRCm39) critical splice donor site probably null
R9504:Ccdc47 UTSW 11 106,101,155 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACATAATAGAGAAGCTGAGCCC -3'
(R):5'- ACAAACCAGCCCCTATTATTGTTGG -3'

Sequencing Primer
(F):5'- CAGCAGCCGAGCCTCTGAG -3'
(R):5'- CAGCAGCTGTCAGTGACTG -3'
Posted On 2014-10-15